Dr Karen Knapp

2023

Journal - Research Other

Fellows, B. J., Tolezano, G. C., Pires, S. F., Ruegg, M. S. G., Knapp, K. M., Krepischi, A. C. V., & Bicknell, L. S. (2023). A novel KNL1 intronic splicing variant likely destabilizes the KMN complex, causing primary microcephaly [Case report]. American Journal of Medical Genetics Part A. Advance online publication. doi: 10.1002/ajmg.a.63468

Knapp, K., Naik, N., Ray, S., van Haaften, G., & Bicknell, L. S. (2023). Histones: Coming of age in Mendelian genetic disorders. Journal of Medical Genetics. Advance online publication. doi: 10.1136/jmg-2022-109085

Conference Contribution - Published proceedings: Abstract

Sullivan, R., Naik, N., Knapp, K., & Bicknell, L. (2023). Unveiling the hidden role of histone H4 in chromatin dynamics and its significance in neurodevelopmental disorders. Proceedings of the Genetics Otago (GO) Annual Symposium & Workshops. Retrieved from https://blogs.otago.ac.nz/go

Tessadori, F., Duran, K., Knapp, K., Fellner, M., Makkers, J., Mace, P., Bicknell, L., & van Haaften, G. (2023). Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome. European Journal of Human Genetics, 31(Suppl. 1), (pp. 71-72). doi: 10.1038/s41431-023-01337-5

2022

Journal - Research Article

Tessadori, F., Duran, K., Knapp, K., Fellner, M., Deciphering Developmental Disorders Study, Smithson, S., … Robertson, S. P., … Mace, P. D., Bicknell, L. S., & van Haaften, G. (2022). Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome. American Journal of Human Genetics, 109, 750-758. doi: 10.1016/j.ajhg.2022.02.003

Conference Contribution - Published proceedings: Abstract

Fellows, B., Knapp, K., & Bicknell, L. (2022). Novel CASC5 intronic splicing variant in three siblings with primary microcephaly. Proceedings of the Genetics Otago (GO) Annual Symposium. Retrieved from https://blogs.otago.ac.nz/go

2021

Journal - Research Article

Knapp, K. M., Jenkins, D. E., Sullivan, R., Harms, F. L., von Elsner, L., Ockeloen, C. W., … Bicknell, L. S. (2021). MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency. European Journal of Human Genetics, 29, 1110-1120. doi: 10.1038/s41431-021-00839-4

Knapp, K. M., Fellows, B., Aggarwal, S., Dalal, A., & Bicknell, L. S. (2021). A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis. European Journal of Medical Genetics, 64(4), 104182. doi: 10.1016/j.ejmg.2021.104182

Blakes, A. J. M., Gaul, E., Lam, W., Shannon, N., Knapp, K. M., Bicknell, L. S., Jackson, M. R., Wade, E. M., Robertson, S., … Douglas, A. G. L. (2021). Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity. European Journal of Human Genetics, 29, 593-603. doi: 10.1038/s41431-020-00766-w

Journal - Research Other

Knapp, K. M., Murray, J., Temple, I. K., & Bicknell, L. S. (2021). Successful pregnancies in an adult with Meier-Gorlin syndrome harboring biallelic CDT1 variants. American Journal of Medical Genetics Part A, 185A, 871-876. doi: 10.1002/ajmg.a.62016

Conference Contribution - Verbal presentation and other Conference outputs

Knapp, K. (2021, July). Histone fidelity is required for brain development. Verbal presentation at the Brain Health Research Centre (BHRC) Annual Conference, Dunedin, New Zealand.

2020

Journal - Research Article

Knapp, K. M., Luu, R., Baerenfaenger, M., Zijlstra, F., Wessels, H. J. C. T., Jenkins, D., … Bicknell, L. S. (2020). Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disability. Journal of Human Genetics, 65, 743-750. doi: 10.1038/s10038-020-0764-4

Knapp, K. M., Sullivan, R., Murray, J., Gimenez, G., Arn, P., D'Souza, P., … Bicknell, L. S. (2020). Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome. Journal of Medical Genetics, 57, 195-202. doi: 10.1136/jmedgenet-2019-106396

2019

Journal - Research Other

Knapp, K. M., Poke, G., Jenkins, D., Truter, W., & Bicknell, L. S. (2019). Expanding the phenotypic spectrum associated with DPF2: A new case report. American Journal of Medical Genetics Part A, 179A, 1637-1641. doi: 10.1002/ajmg.a.61262

2017

Journal - Research Article

Villahermosa, D., Knapp, K., & Fleck, O. (2017). A mutated dph3 gene causes sensitivity of Schizosaccharomyces pombe cells to cytotoxic agents. Current Genetics, 63(6), 1081-1091. doi: 10.1007/s00294-017-0711-x

Villahermosa, D., Christensen, O., Knapp, K., & Fleck, O. (2017). Schizosaccharomyces pombe MutSα and MutLα maintain stability of tetra-nucleotide repeats and Msh3 of hepta-nucleotide repeats. Genes Genomes Genetics, 7(5), 1463-1473. doi: 10.1534/g3.117.040816

Conference Contribution - Poster Presentation (not in published proceedings)

Knapp, K. M., & Bicknell, L. S. (2017, September). Discovering new disease causing genes using Chromium whole-genome sequencing. Poster session presented at the Queenstown Molecular Biology (QMB) Meetings, Queenstown, New Zealand.

2015

Journal - Research Article

Couñago, R. M., Knapp, K. M., Nakatani, Y., Fleming, S. B., Corbett, M., Wise, L. M., Mercer, A. A., & Krause, K. L. (2015). Structures of orf virus chemokine binding protein in complex with host chemokines reveal clues to broad binding specificity. Structure, 23(7), 1199-1213. doi: 10.1016/j.str.2015.04.023

2014

Conference Contribution - Published proceedings: Abstract

Sträter, N., Pippel, J., Knapp, K., Zebisch, M., & Müller, C. (2014). Structural studies on inhibitor binding to human CD73. Purinergic Signalling, 10(2), (pp. 379). doi: 10.1007/s11302-013-9389-9

Pippel, J., Knapp, K., Zebisch, M., El-Tayeb, A., Müller, C. E., & Sträter, N. (2014). Rational design of inhibitors for ecto-5‘-nucleotidase (CD73). Purinergic Signalling, 10(4), (pp. 767). doi: 10.1007/s11302-014-9430-7

Sträter, N., Knapp, K., Pippel, J., Krug, U., Döhler, C., Krauss, M., … Zebisch, M. (2014). Structure and function of ectonucleotidases. Purinergic Signalling, 10(4), (pp. 659-660). doi: 10.1007/s11302-014-9430-7

2012

Journal - Research Article

Knapp, K. M., Zebisch, M., & Sträter, N. (2012). Crystallization and preliminary X-ray analysis of the open form of human ecto-5′-nucleotidase (CD73). Acta Crystallographica Section F, 68(12), 1545-1549. doi: 10.1107/s1744309112045447

Knapp, K., Zebisch, M., Pippel, J., El-Tayeb, A., Müller, C. E., & Sträter, N. (2012). Crystal structure of the human ecto-5′-nucleotidase (CD73): Insights into the regulation of purinergic signaling. Structure, 20(12), 2161-2173. doi: 10.1016/j.str.2012.10.001

Conference Contribution - Published proceedings: Abstract

Pippel, J., Yates, K., Zebisch, M., Müller, C. E., & Sträter, N. (2012). Rational design of inhibitors of human ecto-5′-nucleotidase. Purinergic Signalling, 8(1), (pp. 163). doi: 10.1007/s11302-011-9257-4

Sträter, N., Zebisch, M., & Yates, K. (2012). Structural studies on ectonucleotidases. Purinergic Signalling, 8(1), (pp. 135). doi: 10.1007/s11302-011-9257-4

Kumar, A., Knapp, K., Krause, K., & Marshall, C. (2012). Revisiting the structure of lactate dehydrogenase from Spiny Dogfish. Protein Science, 21(S1), (pp. 95). doi: 10.1002/pro.2113

Conference Contribution - Verbal presentation and other Conference outputs

Krause, K., Couñago, R., Fleming, S., Corbett, M., Wise, L., Knapp, K., & Mercer, A. (2012, November). The structure of the chemokine binding protein from orf virus reveals clues to its broad binding specificity. Verbal presentation at the 57th New Zealand Microbiological Society (NZMS) Annual Scientific Meeting, Dunedin, New Zealand.

2011

Conference Contribution - Published proceedings: Abstract

Sträter, N., Zebisch, M., & Yates, K. (2011). Structure and catalytic mechanism of NTPDases and e5NT in purinergic signalling. Journal of Neurochemistry, 118(Suppl. 1), (pp. 10). doi: 10.1111/j.1471-4159.2011.07324.x

2010

Conference Contribution - Published proceedings: Abstract

Sträter, N., Zebisch, M., Yates, K., & Krug, U. (2010). Structural studies on ecto-nucleotidases. Purinergic Signalling, 6(Suppl. 1), (pp. S77-S78). doi: 10.1007/s11302-010-9187-6